A bit of history, current status and where to next.

FA is named after Nikolaus Friedreich, who first described the condition in 1863. But it was only in 1996 that it was identified that the specific cause is an abnormality in a single gene – the Frataxin (FXN) gene. Considering the recency of that discovery, the progress made so far in research has been remarkable.

For example, at FARA’s most recent scientific symposium in Florida on 7th Sept, 2012 Dr. Helene Puccio described DNA therapy work being done in mice that brought FA progression to a complete stop from the time of administration. The next steps are replicating this work in larger animals, dosage testing and eventually human trials to figure out how similar results can be achieved.

For more information on the symposium and a link to watch the full video, click here.

There are two critically important things we can do as FAers or family or carers of FAers:

  1. Register in the FARA patient registry and make ourselves available to participate in clinical trials. (If you’re not yet registered, click here and do it now).
  2. Manage our health and delay our progression as best we can so when treatments are identified, we’re in the best condition to benefit from them.